Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1291142
rs1291142
1 1.000 20 36896959 intron variant A/G;T snv 0.010 < 0.001 1 2012 2012